Canonical Allele Identifier: CA403084783
Gene: MCOLN1 HGNC NCBI

Linked Data

gnomAD v4: 19-7528220-C-A
MyVariant Identifiers: chr19:g.7593106C>A (hg19) chr19:g.7528220C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528220C>A , CM000681.2:g.7528220C>A GRCh38
NC_000019.9:g.7593106C>A , CM000681.1:g.7593106C>A GRCh37
NC_000019.8:g.7499106C>A NCBI36
NG_015806.1:g.10611C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.840C>A MANE Select ENSP00000264079.5:p.His280Gln
ENST00000264079.10:c.840C>A ENSP00000264079.5:p.His280Gln
ENST00000394321.9:n.1155C>A
NM_020533.2:c.840C>A NP_065394.1:p.His280Gln
NM_020533.3:c.840C>A MANE Select NP_065394.1:p.His280Gln
Search 100 bp 5'
Search 100 bp 3'